Variant report

Variant	rs72745315
Chromosome Location	chr9:104303577-104303578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104302143..104304850-chr9:104306401..104308642,2	K562	blood:
2	chr9:104303266..104305565-chr9:104316225..104317922,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10521057	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1113384	0.83[EUR][1000 genomes]
rs1124148	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12683273	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12684621	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12684773	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12685862	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12686025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16920438	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16920479	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16920483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16920504	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1929484	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2150737	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45572636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4742818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4743465	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4743471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57053192	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59111885	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59837044	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72743378	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72743387	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72743390	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72743392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72743394	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72743396	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72743397	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72745318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7867496	0.81[ASN][1000 genomes]
rs7873168	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1052492	chr9:104263419-104387782	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv893627	chr9:104268342-104334333	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv831672	chr9:104300755-104480849	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104296800-104305800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:104296800-104334200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:104296800-104337400	Weak transcription	Stomach Mucosa	stomach
4	chr9:104297000-104309200	Weak transcription	HUVEC	blood vessel
5	chr9:104297000-104317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:104297200-104309200	Weak transcription	K562	blood
7	chr9:104297600-104304600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:104297600-104306000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:104297600-104321200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:104297600-104330400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:104297600-104330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:104297800-104303800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:104297800-104303800	Strong transcription	Fetal Muscle Leg	muscle
14	chr9:104297800-104304800	Strong transcription	Fetal Lung	lung
15	chr9:104297800-104305800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr9:104297800-104311400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:104297800-104317400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:104297800-104318400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr9:104297800-104320400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:104297800-104320400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:104297800-104325400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr9:104297800-104332600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:104297800-104333000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr9:104298000-104304200	Strong transcription	Fetal Thymus	thymus
25	chr9:104298000-104332800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr9:104298200-104304000	Strong transcription	Dnd41	blood
27	chr9:104298200-104311200	Strong transcription	Primary B cells from cord blood	blood
28	chr9:104298200-104328200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr9:104298200-104333200	Strong transcription	Adipose Nuclei	Adipose
30	chr9:104298400-104303600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:104298400-104312800	Weak transcription	Small Intestine	intestine
32	chr9:104298400-104320000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:104298400-104333200	Strong transcription	Liver	Liver
34	chr9:104298400-104333400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr9:104298600-104325000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:104298800-104303800	Strong transcription	Primary T cells from cord blood	blood
37	chr9:104298800-104307400	Weak transcription	Fetal Brain Male	brain
38	chr9:104298800-104317600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr9:104299000-104303800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr9:104299000-104333000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:104299200-104303800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:104299200-104305200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:104299200-104324200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:104299200-104330400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:104299400-104303800	Strong transcription	Brain Substantia Nigra	brain
46	chr9:104299400-104306400	Strong transcription	HSMM	muscle
47	chr9:104299400-104311400	Strong transcription	Fetal Intestine Large	intestine
48	chr9:104299600-104304600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:104299600-104308000	Weak transcription	Right Ventricle	heart
50	chr9:104299600-104309200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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